HPO Phenotype Lookup
lookup_phenotypeLook up HPO phenotype terms to obtain definitions, synonyms, disease annotations from HPO, OMIM, Orphanet, and parent term hierarchy.
Instructions
Retrieve an HPO phenotype term with associated disease annotations.
Returns:
Phenotype label, definition, synonyms
Diseases annotated with this phenotype (from HPO + OMIM + Orphanet)
Parent phenotype terms
Example: lookup_phenotype(hpo_id='HP:0001250')
returns the Seizure phenotype with ~400 associated diseases.
Input Schema
| Name | Required | Description | Default |
|---|---|---|---|
| params | Yes |
Output Schema
| Name | Required | Description | Default |
|---|---|---|---|
| result | Yes |